ORPHA:453521
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
Synonyms: SCAR17 · Spinocerebellar ataxia autosomal recessive type 17
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | SCAR17 · Spinocerebellar ataxia autosomal recessive type 17 |
| fr | Ataxie cérébelleuse congénitale autosomique récessive par déficit en CWF19L1 | Ataxie spinocérébelleuse autosomique récessive type 17 · SCAR17 |
| de | Zerebelläre Ataxie, autosomal-rezessive, durch CWF19L1-Mangel | Ataxie, spinozerebelläre, autosomal-rezessive, Typ 17 · SCAR17 |
| es | Ataxia cerebelosa autosómica recesiva por deficiencia de CWF19L1 | Ataxia espinocerebelosa autosómica recesiva tipo 17 · SCAR17 |
| it | Atassia cerebellare autosomica recessiva da deficit di CWF19L1 | Atassia spinocerebellare autosomica recessiva, tipo 17 · SCAR17 |
| nl | Autosomaal recessieve cerebellaire ataxie als gevolg van CWF19L1-deficiëntie | SCAR17 · Spinocerebellaire ataxie autosomaal recessief type 17 |
| pt | Ataxia cerebelosa autossómica recessiva por défice de CWF19L1 | |
| pl | Autosomalna recesywna ataksja móżdżkowa spowodowana niedoborem CWF19L1 | Ataksja rdzeniowo-móżdżkowa autosomalna recesywna typu 17 · SCAR17 |
| cs | Autozomálně recesivní cerebelární ataxie způsobená deficitem CWF19L1 | SCAR17 · Spinocerebelární ataxie, autozomálně recesivní, typ 17 |
| uk | Аутосомно-рецесивна мозочкова атаксія, зумовлена дефіцитом CWF19L1 | SCAR17 · Спіноцеребеллярна атаксія, аутосомно-рецесивний тип 17 |
| zh | CWF19L1缺失相关常染色体隐性小脑共济失调 | 常染色体隐性脊髓小脑共济失调17型 |
| tr | CWF19L1 eksikliğine bağlı otozomal resesif serebellar ataksi | SCAR17 · Spinoserebellar ataksi otozomal çekinik tip 17 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616127 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| MONDO | 0014503 | E | validated | |
| UMLS | C4015301 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98095Autosomal recessive congenital cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CWF19L1 | Disease-causing germline mutation(s) in | Assessed | HGNC:25613 | ENSG00000095485 | 616120 | 10q24.31 | CWF19 like cell cycle control factor 1 | 25361784[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 15981765[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15981765[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
24 annotations · validated 2018-03-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0009617 | Abnormality of the distal phalanx of the thumb | |
| HP:0003487 | Babinski sign | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0002312 | Clumsiness | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001260 | Dysarthria | |
| HP:0001310 | Dysmetria | |
| HP:0001332 | Dystonia | |
| HP:0008947 | Floppy infant | |
| HP:0002359 | Frequent falls | |
| HP:0002066 | Gait ataxia | |
| HP:0001263 | Global developmental delay | |
| HP:0000666 | Horizontal nystagmus | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0002080 | Intention tremor | |
| HP:0040196 | Mild microcephaly | |
| HP:0031435 | Monotonic speech | |
| HP:0002470 | Nonprogressive cerebellar ataxia | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0001350 | Slurred speech | |
| HP:0000664 | Synophrys | |
| HP:0002078 | Truncal ataxia | |
| HP:0002317 | Unsteady gait | |
| Occasional (29-5%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
Annotation source: 25361784[PMID]_27016154[PMID]_26197978[PMID]_15981765[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/453521
- This record as JSON: /data/d/453521.json